Search Result "monogenic recessive mutation"


Mini-Review Article

Clinical and Molecular Perspectives of Monogenic Hypertension

Journal: Current Hypertension Reviews
Volume: 16 Issue: 2 Year: 2020 Page: 91-107
Author(s): Peter E. Levanovich,Alexander Diaczok,Noreen F. Rossi

Genes Underlying Monogenic and Multigenic Epilepsies in Mice

Journal: Current Genomics
Volume: 2 Issue: 1 Year: 2001 Page: 71-83
Author(s): Verity A. Letts

AAV-Mediated Gene Therapy in Mouse Models of Recessive Retinal Degeneration

Journal: Current Molecular Medicine
Volume: 12 Issue: 3 Year: 2012 Page: 316-330
Author(s): J.-J. Pang, L. Lei, X. Dai, W. Shi, X. Liu, A. Dinculescu, J. H. McDowell

Mini-Review Article

Monogenic Diabetes: Genetics and Relevance on Diabetes Mellitus Personalized Medicine

Journal: Current Diabetes Reviews
Volume: 16 Issue: 8 Year: 2020 Page: 807-819
Author(s): Madalena Sousa,Jácome Bruges-Armas

Case Report

A Novel Compound Heterozygous Gene Mutation of Dolichol Kinase Deficiency (DOLK-CDG)

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 2 Year: 2023 Page: 235-241
Author(s):

Case Report

Case Report of a Novel NFkB Mutation in a Lymphoproliferative DisorderPatient

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 22 Issue: 1 Year: 2022 Page: 1040-1045
Author(s): Raul Jimenez Heredia,Bibi Shahin Shamsian

Therapeutic Options in Prevention and Treatment of Aspartoacylase Gene Mutation Resulting Abnormalities in Canavan Disease

Journal: Current Pharmacogenomics
Volume: 2 Issue: 1 Year: 2004 Page: 13-20
Author(s): Sankar Surendran, Stephen K. Tyring, Kimberlee Michals-Matalon, Reuben Matalon

Neurochemistry Changes Associated with Mutations in Familial Parkinsons Disease

Journal: Current Medicinal Chemistry
Volume: 17 Issue: 3 Year: 2010 Page: 4378-4391
Author(s): M. M. Siddique, E. K. Tan

Phenotypic Variants of the Deafness-Associated Mitochondrial DNA A7445G Mutation

Journal: Current Medicinal Chemistry
Volume: 15 Issue: 1 Year: 2008 Page: 1257-1262
Author(s): Anita Maasz, Katalin Komlosi, Kinga Hadzsiev, Zsolt Szabo, Patrick J. Willems, Imre Gerlinger, Gyorgy Kosztolanyi, Karoly Mehes, Bela Melegh

Review Article

Screening for Rare Genetic Variants Associated with Atherosclerosis: Opportunity for Personalized Medicine

Journal: Current Vascular Pharmacology
Volume: 17 Issue: 1 Year: 2019 Page: 25-28
Author(s): Ana Peterlin,Danijel Petrovic,Borut Peterlin

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